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rs771427957

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of a McArdle disease mutation
(T;T) 5 McArdle disease (also known as glycogen storage disease type V)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position64751923
GenePYGM
is asnp
is mentioned by
dbSNPrs771427957
dbSNP (classic)rs771427957
ClinGenrs771427957
ebirs771427957
HLIrs771427957
Exacrs771427957
Gnomadrs771427957
Varsomers771427957
LitVarrs771427957
Maprs771427957
PheGenIrs771427957
Biobankrs771427957
1000 genomesrs771427957
hgdprs771427957
ensemblrs771427957
geneviewrs771427957
scholarrs771427957
googlers771427957
pharmgkbrs771427957
gwascentralrs771427957
openSNPrs771427957
23andMers771427957
SNPshotrs771427957
SNPdbers771427957
MSV3drs771427957
GWAS Ctlgrs771427957
Max Magnitude5
ClinVar
Risk Rs771427957(T;T)
Alt Rs771427957(T;T)
Reference Rs771427957(C;C)
Significance Pathogenic
Disease Glycogen storage disease not provided
Variation info
Gene PYGM
CLNDBN Glycogen storage disease, type V not provided
Reversed 0
HGVS NC_000011.9:g.64519395C>T
CLNSRC
CLNACC RCV000174750.1, RCV000423322.1,